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GWAS Study

Genome-wide association study in an admixed case series reveals IL12A as a new candidate in Behçet disease.

Kappen JH, Medina-Gomez C, van Hagen PM et al.

25799145 PubMed ID
GWAS Study Type
6359 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

KJ
Kappen JH
MC
Medina-Gomez C
VH
van Hagen PM
SL
Stolk L
EK
Estrada K
RF
Rivadeneira F
UA
Uitterlinden AG
SM
Stanford MR
BE
Ben-Chetrit E
WG
Wallace GR
SM
Soylu M
VL
van Laar JA
Chapter II

Abstract

Summary of the research findings

Introduction: The etiology of Behçet's disease (BD) is unknown, but widely considered an excessive T-cell mediated inflammatory response in a genetically susceptible host. Recent genome-wide association studies (GWAS) have shown limited number of novel loci-associations. The rarity and unequal distribution of the disease prevalence amongst different ethnic backgrounds have hampered the use of GWAS in cohorts of mixed ethnicity and sufficient sample size. However, novel statistical approaches have now enabled GWAS in admixed cohorts.

1 Afghanistan ancestry case, 154 Middle Eastern/North African ancestry cases, 2 Cape Verdian cases, 1 Curacao case, 1 Dominican Republic ancestry cases, 54 European ancestry cases, 1 Israeli case, 1 Surinamese ancestry case, 1 Thai ancestry case, 1 Chinese ancestry case, 119 Turkish ancestry cases, 87 Middle Eastern/North African ancestry controls, 5,756 controls

Chapter III

Study Statistics

Key metrics and study information

6359
Total Participants
GWAS
Study Type
Yes
Replicated
82 European ancestry cases, 98 European ancestry controls
Replication Participants
Hispanic or Latin American, Greater Middle Eastern (Middle Eastern, North African or Persian), European, Asian unspecified, Other, East Asian, South East Asian
Ancestry
Netherlands, Israel, Turkey, U.K., Suriname
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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